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Article

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

European journal of human genetics : EJHG - 1 Nov 2013

Dias Cristina, McDonald Allison, Sincan Murat, Rupps Rosemarie, Markello Thomas, Salvarinova Ramona, Santos Rui F, Menghrajani Kamal, Ahaghotu Chidi, Sutherland Darren P, Fortuno Edgardo S, Kollmann Tobias R, Demos Michelle, Friedman Jan M, Speert David P, Gahl William A, Boerkoel Cornelius F

Abstract excerpt

Inflammation is an important contributor to pediatric and adult neurodegeneration. Understanding the genetic determinants of neuroinflammation provides valuable insight into disease mechanism. We characterize a disorder of recurrent immune-mediated neurodegeneration. We report two sisters who presented with neurodegeneration triggered by infections. The proband, a previously healthy girl, presented at 22.5 months...

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Identifiers

PMID: 23443029
DOI: 10.1038/ejhg.2013.20
PMCID: PMC3798831

Genes

PRF1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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